Clinical characteristics and genetic features of patients with Wilson's disease in southwestern China [0.03%]
中国西南地区肝豆状核变症患者的临床和基因特点分析
Lu Zhang,Yao Dong,Jieru Peng et al.
Lu Zhang et al.
Background: Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to copper metabolism dysfunction. The clinical and genetic manifestations of WD vary across populatio...
Mesenchymal stromal cell infusions of umbilical cord-derived mesenchymal stromal cells in children with Recessive Dystrophic Epidermolysis Bullosa (MissionEB): a qualitative sub study of a randomised, double-blind, placebo controlled, crossover, phase 3 trial [0.03%]
胎盘来源的间充质基质细胞在儿童型营养不良性大疱表皮松解症中的应用（MissionEB）：一项随机、双盲、安慰剂对照和交叉设计三期临床试验的定性子研究
Katie Biggs,Shamila Ditta,Maria L Bageta et al.
Katie Biggs et al.
Background: Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a rare genetic skin condition causing fragile skin, blistering, and scarring. It leads to chronic pain, slow wound healing, and severe limitations, profound...
The impact of vision impairment on living with congenital aniridia: a pan-European survey study [0.03%]
先天性无虹膜症患者的视力损害对其生活的影响：一项泛欧洲调查研究
Renáta Schoffer,Christina Grupcheva,Ivana Kildsgaard et al.
Renáta Schoffer et al.
Background: Congenital aniridia is a rare but severe eye disease stemming from genetic variants in PAX6 or related genes and affecting all eye structures, causing lifelong disability. Awareness of the disease is poor even...
Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team [0.03%]
成人早期治疗PKU的治疗目标应由患者及其医疗团队基于循证共同决策确定
Mirjam Langeveld,Sandra Sirrs,Robin Lachman et al.
Mirjam Langeveld et al.
This opinion article focusses on treatment targets in adults with early treated PKU (etPKU), specifically the recommended phenylalanine (Phe) level. The current body of evidence on the relationship between Phe levels at different times in l...
Evidence of health inequities across the rare disease patient care pathway: development of a toolkit using a conceptual framework [0.03%]
罕见病患者诊疗途径中健康不平等的证据：使用概念框架开发工具包
Simon Briscoe,Clara Martin Pintado,Ruth Garside et al.
Simon Briscoe et al.
People with a rare disease (PwRD) often face more challenges than the wider population in obtaining a diagnosis and accessing services. These challenges can be framed as health inequities, i.e. differences in health opportunities and outcom...
A novel SERPING1 splice-site variant (c.1029 + 2T > A) causing hereditary angioedema type I: functional characterization and clinical analysis [0.03%]
一种新的SERPING1剪接位点变异(c.1029 + 2T > A)导致的遗传性血管水肿I型：功能表征和临床分析
Weili Guo,Xu Yang,Wenjin Du et al.
Weili Guo et al.
Background: Hereditary angioedema (HAE) is a rare autosomal dominant disorder predominantly caused by mutations in the SERPING1 gene, which encodes C1 esterase inhibitor (C1-INH). HAE is characterized by recurrent self-li...
Characterization of two ultra-rare CFTR variants, P.Leu999del and P.Glu1104Lys, with unknown theratyping profiles [0.03%]
两种罕见的CFTR变异体P.Leu999del和P.Glu1104Lys的特征描述及其未知的治疗反应特征谱型式研究
Tereza Dousova,Lucie Borek-Dohalska,Stepanka Novotna et al.
Tereza Dousova et al.
Background: Individuals carrying ultra-rare CFTR variants remain untreated with CFTR modulator therapies due to a lack of functional and clinical data supporting variant-specific responsiveness. This study aimed to functi...
Maturity Onset Diabetes of the Young (MODY): French National Diagnosis and Care Protocol (PNDS, Protocole National de Diagnostic et de Soins) [0.03%]
青年人发病的成年型糖尿病（MODY）：法国国家诊疗规范（PNDS，Protocole National de Diagnostic et de Soins）
Danièle Dubois-Laforgue,Bruno Donadille,Cécile Ciangura et al.
Danièle Dubois-Laforgue et al.
Real world outcomes of Fabry disease in Italian excellence centers: the ground study [0.03%]
意大利卓越中心法布雷病的真实世界结局：地面研究
Iacopo Olivotto,Renzo Mignani,Federico Umberto Pieruzzi et al.
Iacopo Olivotto et al.
Background: A better understanding of Fabry Disease (FD) in terms of diagnostic journey, patient profile and use of available treatments remains topical. The Global buRden and treatment trajectOries in Italian patients wi...
Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADH [0.03%]
戊二醛脱氢酶与分子对SSADH的影响之间的关系探究及丁二酸半醛脱氢酶缺乏症的研究
Dandan Yan,Xiangyu Liu,Chunyu Gu et al.
Dandan Yan et al.
Background: Succinic semialdehyde dehydrogenase deficiency (SSADHD), caused by variants in ALDH5A1, is a rare inherited neurometabolic disorder with phenotypic heterogeneity. To clarify the pathogenicity of ALDH5A1 varian...